Table 2.
List of Cases from the Diagnostic Data Set in Which Reported Consanguinity Status and Experimentally Inferred Status Are Discordant
| Case | ROH_length, Mb | Exome capture kit | Ethnicity | Consanguinity status |
Gene | Disease | Variant in a 1-Mb ROH | |
|---|---|---|---|---|---|---|---|---|
| Reported | Experimental | |||||||
| 1 | 194.6 | Nextera_62 Mb | Unknown | Nonconsanguineous | Consanguineous | MLTK | Congenital fiber-type disproportion myopathy (ORPHA: 2020) | Yes |
| 2 | 124.3 | Nextera_62 Mb | Unknown | Unknown | Consanguineous | ADCK3 | Autosomal recessive ataxia due to ubiquinone deficiency (ORPHA: 139485) | Yes |
| 3 | 21.7 | SureSelectv5_50 Mb | Unknown | Consanguineous | Nonconsanguineous | MUSK | Postsynaptic congenital myasthenic syndromes (ORPHA: 98913) | Yes |
| 4 | 369.4 | SureSelectv5_50 Mb | Unknown | Nonconsanguineous | Consanguineous | MUSK | Postsynaptic congenital myasthenic syndromes (ORPHA: 98913) | Yes |
| 5 | 262.1 | MedExome_47 Mb | Unknown | Unknown | Consanguineous | POMK | Autosomal recessive limb-girdle muscular dystrophy (ORPHA: 102015) | Yes |
| 6 | 31.2 | MedExome_47 Mb | Unknown | Consanguineous | Uncertain | PTPN23 | Epileptic encephalopathy with hypomyelination and brain atrophy (PMID: 29899372) | Yes |
| 7 | 34.4 | MedExome_47 Mb | White | Consanguineous | Uncertain | ARV1 | Early-onset epileptic encephalopathy (ORPHA: 442835) | No |
| 8 | 88.9 | SureSelectv5_50 Mb | Middle Eastern | Unknown | Probably consanguineous | HACE1 | Spastic paraplegia–severe developmental delay–epilepsy syndrome (ORPHA: 464282) | Yes |
| 9 | 301.7 | MedExome_47 Mb | Middle Eastern | Unknown | Consanguineous | SYNJ1 | Early-onset epileptic encephalopathy (ORPHA: 442835) | Yes |
| 10 | 231.2 | MedExome_47 Mb | White | Nonconsanguineous | Consanguineous | PLEKHG5 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (ORPHA: 369867) | Yes |
| 11 | 444.4 | MedExome_47 Mb | Unknown | Unknown | Consanguineous | COLQ | Synaptic congenital myasthenic syndromes (ORPHA: 98915) | Yes |
| 12 | 310.2 | MedExome_47 Mb | Middle Eastern | Unknown | Consanguineous | CRTAP | Rare disorder with pigmented sclera (ORPHA: 519296) | Yes |
| 13 | 8.6 | MedExome_47 Mb | Middle Eastern | Consanguineous | Nonconsanguineous | UPF3B | X-linked nonsyndromic intellectual disability (ORPHA: 777) | No |
Mb, megabase; ORPHA, Orphanet Ontology Code; PMID, Pubmed ID; ROH, run of homozygosity.